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763066009: Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3637753015 Houlston Ironton Temple syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3637756011 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3637757019 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of anus true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital septal defect of heart false Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of upper limb true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital blepharophimosis true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of atrioventricular septum false Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Narrowed structure true Inferred relationship Existential restriction modifier 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Structure of atrioventricular septum true Inferred relationship Existential restriction modifier 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Congenital septal defect true Inferred relationship Existential restriction modifier 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Anal structure true Inferred relationship Existential restriction modifier 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Upper limb structure true Inferred relationship Existential restriction modifier 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of cardiac chamber false Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac connection true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of eyelid false Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac ventricle false Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Narrowing of palpebral fissure false Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of atrium false Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital atrioventricular septal defect true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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